Canonical Allele Identifier: CA385035092

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701369C>G (hg19) ; chr12:g.53307585C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307585C>G , CM000674.2:g.53307585C>G	GRCh38
NC_000012.11:g.53701369C>G , CM000674.1:g.53701369C>G	GRCh37
NC_000012.10:g.51987636C>G	NCBI36
NG_016775.1:g.19044G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1545G>C MANE Select	ENSP00000209873.4:p.Leu515=
ENST00000546562.6:n.2609G>C
ENST00000547238.6:n.2181G>C
ENST00000547520.6:n.1661G>C
ENST00000547757.2:c.*463G>C	ENSP00000448020.2:n.*463G>C
ENST00000548931.6:c.980G>C	ENSP00000457518.1:p.Cys327Ser
ENST00000549450.6:n.1479G>C
ENST00000672797.1:n.2034G>C
ENST00000209873.8:c.1545G>C	ENSP00000209873.4:p.Leu515=
ENST00000394384.7:c.1446G>C	ENSP00000377908.3:p.Leu482=
ENST00000548931.5:c.980G>C	ENSP00000457518.1:p.Cys327Ser
ENST00000550286.5:c.1173G>C	ENSP00000446885.1:p.Leu391=
ENST00000552876.5:n.1888G>C
NM_001173466.1:c.1446G>C	NP_001166937.1:p.Leu482=
NM_015665.5:c.1545G>C	NP_056480.1:p.Leu515=
XM_006719617.2:c.1560G>C	XP_006719680.1:p.Leu520=
XM_011538777.1:c.1602G>C	XP_011537079.1:p.Leu534=
XM_011538778.1:c.1587G>C	XP_011537080.1:p.Leu529=
XM_011538779.1:c.1503G>C	XP_011537081.1:p.Leu501=
XM_011538780.1:c.1488G>C	XP_011537082.1:p.Leu496=
XM_011538781.1:c.936G>C	XP_011537083.1:p.Leu312=
XM_011538778.2:c.1587G>C	XP_011537080.1:p.Leu529=
XM_011538780.2:c.1488G>C	XP_011537082.1:p.Leu496=
XR_001748875.2:n.1602G>C
NM_015665.6:c.1545G>C MANE Select	NP_056480.1:p.Leu515=
NM_001173466.2:c.1446G>C	NP_001166937.1:p.Leu482=